Search Ontology:
Human Disease

familial GPIHBP1 deficiency

Term ID
DOID:0111420
Synonyms
  • familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency
  • hyperlipoproteinemia type 1D
  • hyperlipoproteinemia type ID
Definition
A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. (2)
References
Ontology
Human Disease   ( DOID:0111420 )
Relationships
is a type of
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Genes Involved
Zebrafish Models